Academic Department Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, Faculty of Medicine, Catholic University of Leuven, Leuven, Belgium.
Center for Surgical Technologies, Faculty of Medicine, Catholic University of Leuven, Leuven, Belgium.
Arch Dis Child Fetal Neonatal Ed. 2018 Nov;103(6):F589-F595. doi: 10.1136/archdischild-2018-315143. Epub 2018 Jul 13.
Spina bifida aperta (SBA) is one of the most common congenital malformations. It can cause severe lifelong physical and neurodevelopmental disabilities. Experimental and clinical studies have shown that the neurological deficits associated with SBA are not simply caused by incomplete neurulation at the level of the lesion. Additional damage is caused by prolonged exposure of the spinal cord and nerves to the intrauterine environment and a suction gradient due to cerebrospinal fluid leakage, leading to progressive downward displacement of the hindbrain. This natural history can be reversed by prenatal repair. A randomised controlled trial demonstrated that mid-gestational maternal-fetal surgery for SBA decreases the need for ventriculoperitoneal shunting and hindbrain herniation at 12 months and improves neurological motor function at 30 months of age. This came at the price of maternal and fetal risks, the most relevant ones being increased prematurity and a persistent uterine corporeal scar. Recently minimally invasive fetal approaches have been introduced clinically yet they lack extensive experimental or clinical trials. We aim to provide clinicians with the essential information necessary to counsel SBA parents as the basis for considering referral of selected patients to expert fetal surgery centres. We review the reported clinical outcomes and discuss recent developments of potentially less invasive fetal SBA approaches.
开放性脊柱裂(SBA)是最常见的先天性畸形之一。它可导致严重的终生身体和神经发育残疾。实验和临床研究表明,与 SBA 相关的神经功能缺损不仅仅是由于病变水平的不完全神经管融合引起的。脊髓和神经长时间暴露于子宫内环境和由于脑脊液漏引起的抽吸梯度,导致后脑疝逐渐向下移位,这会导致额外的损伤。这种自然病程可以通过产前修复来逆转。一项随机对照试验表明,对于 SBA 的中孕期胎儿-母体手术可减少 12 个月时需要脑室-腹腔分流术和后脑疝的发生,并改善 30 个月时的神经运动功能。但这是以母婴风险为代价的,最相关的风险是增加早产和持续的子宫体瘢痕。最近已经引入了微创胎儿方法,但它们缺乏广泛的实验或临床试验。我们旨在为临床医生提供必要的基本信息,以便为 SBA 父母提供咨询,作为考虑将选定的患者转介到专家胎儿手术中心的基础。我们回顾了报告的临床结果,并讨论了潜在的微创胎儿 SBA 方法的最新进展。